ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.2426G>A (p.Gly809Asp)

gnomAD frequency: 0.46389  dbSNP: rs7195066
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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000120927 SCV000302478 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001094251 SCV000399843 benign Fanconi anemia complementation group A 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000120927 SCV000603543 benign not specified 2016-09-13 criteria provided, single submitter clinical testing
Invitae RCV000292806 SCV001000338 benign Fanconi anemia 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001094251 SCV001754619 benign Fanconi anemia complementation group A 2021-07-08 criteria provided, single submitter clinical testing
GeneDx RCV001705887 SCV001830376 benign not provided 2019-03-01 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 23898106, 24728327, 27153395)
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000120927 SCV002051132 likely benign not specified 2021-12-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002444577 SCV002732894 benign Inborn genetic diseases 2019-10-22 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV001094251 SCV004017529 benign Fanconi anemia complementation group A 2023-07-07 criteria provided, single submitter clinical testing
ITMI RCV000120927 SCV000085095 not provided not specified 2013-09-19 no assertion provided reference population
Leiden Open Variation Database RCV001094251 SCV001425684 uncertain significance Fanconi anemia complementation group A 2020-02-28 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitter to LOVD: Nikoletta Selenti.
Natera, Inc. RCV001094251 SCV001452865 benign Fanconi anemia complementation group A 2020-09-16 no assertion criteria provided clinical testing

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